A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747721



Internal ID10328691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:81173123..81173417hg38UCSC Ensembl
Outerchr13:81747258..81747552hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809532, essv6891437, essv6977567, essv6857497, essv6677996, essv6827912, essv6959572, essv6862607, essv6831494, essv6851496, essv6685237, essv6867391, essv6673450, essv6882471, essv6819927, essv6867353, essv6695753, essv6728503, essv6812352, essv6702641, essv6698887, essv6909060, essv6920397, essv6966103, essv6720867
SamplesSSM027, SSM075, SSM046, SSM011, SSM087, SSM038, SSM097, SSM039, SSM088, SSM029, SSM026, SSM089, SSM017, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM081, SSM078, SSM080, SSM037, SSM076, SSM034
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2747721
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer